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Unit Code 80946:
N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts

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Useful For

Assisting in the diagnosis of Morquio A disease

Clinical Information

A deficiency of N-acetylgalactosamine-6-sulfate sulfatase causes

mucopolysaccharidosis IV A (Morquio A disease). Patients excrete

excess amounts of keratan sulfate in urine. The patient also has a

deficiency in galactose 6-sulfate sulfatase.

 

Classical Morquio's disease is characterized by progressive

skeletal deformity, corneal clouding, and aortic valve disease,

but normal intelligence.

Reference Values

3.05-12.34 nmol/h/mg

Interpretation

Values <0.5 nmol/hour/mg suggest Morquio A disease.

Cautions

The test cannot be used to establish carrier status for Morquio A

disease.

Special Instructions and Forms

• Lysosomal Storage Disorders 

Clinical Reference

Glosse J, Kress H:  A sensitive procedure for the diagnosis of

N-acetylgalactosamine-6-sulfate sulfatase deficiency in classical

Morquio's disease. Clin Chim Acta 1978;88:111-119

Key